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Aliases for KLHL40 Gene

Aliases for KLHL40 Gene

  • Kelch-Like Family Member 40 2 3
  • Sarcosynapsin 2 3 4
  • KBTBD5 3 4 6
  • Kelch Repeat And BTB Domain-Containing Protein 5 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 5 2 3
  • Nemaline Myopathy Type 8 2 3
  • NEM8 3 6
  • SYRP 3 6
  • SRYP 3 4
  • Kelch-Like 40 (Drosophila) 2
  • Kelch-Like Protein 40 3

External Ids for KLHL40 Gene

Previous Symbols for KLHL40 Gene

  • KBTBD5

Summaries for KLHL40 Gene

Entrez Gene Summary for KLHL40 Gene

  • This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

GeneCards Summary for KLHL40 Gene

KLHL40 (Kelch-Like Family Member 40) is a Protein Coding gene. Diseases associated with KLHL40 include nemaline myopathy 8, autosomal recessive and nemaline myopathy. An important paralog of this gene is KBTBD6.

UniProtKB/Swiss-Prot for KLHL40 Gene

  • Required for skeletal muscle development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL40 Gene

Genomics for KLHL40 Gene

Genomic Location for KLHL40 Gene

42,685,519 bp from pter
42,692,544 bp from pter
7,026 bases
Plus strand

Genomic View for KLHL40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL40 Gene

No data available for Regulatory Elements for KLHL40 Gene

Proteins for KLHL40 Gene

  • Protein details for KLHL40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch-like protein 40
    Protein Accession:
    Secondary Accessions:
    • Q86SI1
    • Q96MR2

    Protein attributes for KLHL40 Gene

    621 amino acids
    Molecular mass:
    69257 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLHL40 Gene

    Alternative splice isoforms for KLHL40 Gene


neXtProt entry for KLHL40 Gene

Proteomics data for KLHL40 Gene at MOPED

Post-translational modifications for KLHL40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL40 Gene

Domains for KLHL40 Gene

Gene Families for KLHL40 Gene

  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like


  • Contains 1 BACK (BTB/Kelch associated) domain.:
    • Q2TBA0
  • Contains 1 BTB (POZ) domain.:
    • Q2TBA0
  • Contains 5 Kelch repeats.:
    • Q2TBA0
genes like me logo Genes that share domains with KLHL40: view

Function for KLHL40 Gene

Molecular function for KLHL40 Gene

UniProtKB/Swiss-Prot Function: Required for skeletal muscle development.

Gene Ontology (GO) - Molecular Function for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KLHL40: view

Phenotypes for KLHL40 Gene

GenomeRNAi human phenotypes for KLHL40:
genes like me logo Genes that share phenotypes with KLHL40: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KLHL40 Gene

Localization for KLHL40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL40 Gene

Cytoplasm, myofibril, sarcomere, A band.

Gene Ontology (GO) - Cellular Components for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0031672 A band IEA --
genes like me logo Genes that share ontologies with KLHL40: view

Pathways for KLHL40 Gene

SuperPathways for KLHL40 Gene

No Data Available

Interacting Proteins for KLHL40 Gene

Gene Ontology (GO) - Biological Process for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development --
GO:0031397 negative regulation of protein ubiquitination IEA --
GO:0048741 skeletal muscle fiber development IEA --
GO:0098528 skeletal muscle fiber differentiation IEA --
genes like me logo Genes that share ontologies with KLHL40: view

No data available for Pathways by source for KLHL40 Gene

Transcripts for KLHL40 Gene

mRNA/cDNA for KLHL40 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL40 Gene

Kelch-like family member 40:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL40 Gene

No ASD Table

Relevant External Links for KLHL40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHL40 Gene

mRNA expression in normal human tissues for KLHL40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL40 Gene

This gene is overexpressed in Muscle - Skeletal (50.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KLHL40 Gene

SOURCE GeneReport for Unigene cluster for KLHL40 Gene Hs.350288

mRNA Expression by UniProt/SwissProt for KLHL40 Gene

Tissue specificity: Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Aslo expressed in fetal and adult heart.
genes like me logo Genes that share expressions with KLHL40: view

Orthologs for KLHL40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHL40 37
  • 100 (a)
(Bos Taurus)
Mammalia KBTBD5 36
  • 89.57 (n)
  • 93.51 (a)
  • 93 (a)
(Canis familiaris)
Mammalia KLHL40 36
  • 89.1 (n)
  • 92.11 (a)
KLHL40 37
  • 93 (a)
(Mus musculus)
Mammalia Klhl40 36
  • 86.75 (n)
  • 92.73 (a)
Klhl40 16
Klhl40 37
  • 92 (a)
(Monodelphis domestica)
Mammalia KLHL40 37
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia KLHL40 37
  • 83 (a)
(Rattus norvegicus)
Mammalia Klhl40 36
  • 86.06 (n)
  • 91.56 (a)
(Gallus gallus)
Aves KBTBD5 36
  • 70.77 (n)
  • 71.8 (a)
KLHL40 37
  • 71 (a)
(Anolis carolinensis)
Reptilia -- 37
  • 63 (a)
-- 37
  • 65 (a)
-- 37
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl40 36
  • 66.72 (n)
  • 68.14 (a)
(Danio rerio)
Actinopterygii klhl40a 36
  • 61.89 (n)
  • 59.31 (a)
klhl40a 37
  • 58 (a)
klhl40b 37
  • 57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 22 (a)
Species with no ortholog for KLHL40:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL40 Gene

Gene Tree for KLHL40 (if available)
Gene Tree for KLHL40 (if available)

Paralogs for KLHL40 Gene

Selected SIMAP similar genes for KLHL40 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KLHL40: view

Variants for KLHL40 Gene

Sequence variations from dbSNP and Humsavar for KLHL40 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs123509 - 42,691,976(-) CAGGC(A/G)CAGCA missense, reference
rs339698 -- 42,690,744(-) CAGGC(A/G)CCCAT intron-variant
rs339699 -- 42,689,890(-) GCAGC(A/G)TCAGC intron-variant
rs339700 -- 42,689,400(-) GTCCA(A/G)CTGTC intron-variant
rs339701 -- 42,689,156(-) CCAAA(C/G)TCAAC intron-variant

Relevant External Links for KLHL40 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Structural Variations from Database of Genomic Variants (DGV) for KLHL40 Gene

Disorders for KLHL40 Gene

(1) OMIM Diseases for KLHL40 Gene (615340)


  • Nemaline myopathy 8 (NEM8) [MIM:615348]: A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. {ECO:0000269 PubMed:23746549}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KLHL40: view

Publications for KLHL40 Gene

  1. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (PMID: 23746549) Ravenscroft G. … Laing N.G. (Am. J. Hum. Genet. 2013) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Nemaline Myopathy (PMID: 20301465) Pagon R.A. … Stephens K. ( 1993) 3
  5. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3

Products for KLHL40 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate KLHL40
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for KLHL40
    • Block miRNA regulation of KLHL40 using miScript Target Protectors

    Sources for KLHL40 Gene

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